Incidence, phenotypic features and molecular genetics of Kallmann syndrome in Finland (Q35126506)

6 August 2017

Incidence, phenotypic features and molecular genetics of Kallmann syndrome in Finland (English)

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6 August 2017

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6 August 2017

Leena Valanne

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author name string

Eeva-Maria Laitinen

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6 August 2017

Kirsi Vaaralahti

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6 August 2017

Elina Eklund

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6 August 2017

Mari Tervaniemi

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6 August 2017

17 June 2011

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Orphanet Journal of Rare Diseases

6 August 2017

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6 August 2017

41

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https://scigraph.springernature.com/pub.10.1186/1750-1172-6-41

6 August 2017

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cites work

WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome

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Oligogenic basis of isolated gonadotropin-releasing hormone deficiency.

28 July 2018

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A case of Kallmann syndrome carrying a missense mutation in alternatively spliced exon 8A encoding the immunoglobulin-like domain IIIb of fibroblast growth factor receptor 1

28 July 2018

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A comparative phenotypic study of kallmann syndrome patients carrying monoallelic and biallelic mutations in the prokineticin 2 or prokineticin receptor 2 genes

28 July 2018

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Impaired fibroblast growth factor receptor 1 signaling as a cause of normosmic idiopathic hypogonadotropic hypogonadism

28 July 2018

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The recent genetics of hypogonadotrophic hypogonadism - novel insights and new questions

28 July 2018

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The genetic and molecular basis of idiopathic hypogonadotropic hypogonadism

28 July 2018

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Detection of CHD7 deletions by MLPA in CHARGE syndrome patients with a less typical phenotype

28 July 2018

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CHD7 mutations in patients initially diagnosed with Kallmann syndrome--the clinical overlap with CHARGE syndrome

28 July 2018

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Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome

28 July 2018

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Decreased FGF8 signaling causes deficiency of gonadotropin-releasing hormone in humans and mice

28 July 2018

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CHD7 mutation spectrum in 28 Swedish patients diagnosed with CHARGE syndrome

28 July 2018

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Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker.

28 July 2018

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Loss-of-function mutation in the prokineticin 2 gene causes Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism

28 July 2018

1 reference

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Impaired FGF signaling contributes to cleft lip and palate

28 July 2018

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Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism

28 July 2018

1 reference

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Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2

28 July 2018

1 reference

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Mutations in fibroblast growth factor receptor 1 cause both Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism

28 July 2018

1 reference

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Cell surface expression of 5-hydroxytryptamine type 3 receptors is promoted by RIC-3.

28 July 2018

1 reference

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Insights into the molecular basis for fibroblast growth factor receptor autoinhibition and ligand-binding promiscuity

28 July 2018

1 reference

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Human non-synonymous SNPs: server and survey

28 July 2018

1 reference

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The structure and function of vertebrate fibroblast growth factor receptor 1

28 July 2018

1 reference

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The rat osteocalcin fibroblast growth factor (FGF)-responsive element: an okadaic acid-sensitive, FGF-selective transcriptional response motif

28 July 2018

1 reference

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Disease gene mapping in isolated human populations: the example of Finland

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3143089

Impuberism and hypogonadism at induction into military service. Statistical study

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3143089

Luteinizing hormone-releasing hormone (LHRH)-expressing cells do not migrate normally in an inherited hypogonadal (Kallmann) syndrome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3143089

A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules

28 July 2018

1 reference

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The candidate gene for the X-linked Kallmann syndrome encodes a protein related to adhesion molecules

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3143089

Olfacto-genital dysplasia in the female

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3143089

Defective migration of neuroendocrine GnRH cells in human arrhinencephalic conditions

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3143089

Idiopathic hypogonadotropic hypogonadism in a mother and her monozygotic twins born after a single embryo transfer

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3143089

Reversal of idiopathic hypogonadotropic hypogonadism

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3143089

Kallmann's syndrome, a neuronal migration defect

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3143089

Extended and flexible domain solution structure of the extracellular matrix protein anosmin-1 by X-ray scattering, analytical ultracentrifugation and constrained modelling.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3143089

Reversible kallmann syndrome, delayed puberty, and isolated anosmia occurring in a single family with a mutation in the fibroblast growth factor receptor 1 gene

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3143089

Characterization of the human nasal embryonic LHRH factor gene, NELF, and a mutation screening among 65 patients with idiopathic hypogonadotropic hypogonadism (IHH)

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3143089

Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3143089

Identification of three novel mutations in the KAL1 gene in patients with Kallmann syndrome

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3143089

The importance of autosomal genes in Kallmann syndrome: genotype-phenotype correlations and neuroendocrine characteristics.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3143089

Loss-of-Function Mutations in the Genes Encoding Prokineticin-2 or Prokineticin Receptor-2 Cause Autosomal Recessive Kallmann Syndrome

27 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186%2F1750-1172-6-41

21 January 2018

1 reference

12 December 2020

Delayed puberty: analysis of a large case series from an academic center

1 reference

12 December 2020

Klinefelter's syndrome in Sardinia. Clinical report of 265 hypogonadic males detected at the time of military check-up

1 reference

12 December 2020

Gonadotropin-releasing hormone deficiency in the human (idiopathic hypogonadotropic hypogonadism and Kallmann's syndrome): pathophysiological and genetic considerations

1 reference

12 December 2020

Updated diagnostic criteria for CHARGE syndrome: a proposal

1 reference

12 December 2020

Novel Fibroblast Growth Factor Receptor 1 Mutations in Patients with Congenital Hypogonadotropic Hypogonadism with and without Anosmia

1 reference

12 December 2020

Identifiers

DOI

10.1186/1750-1172-6-41

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Dimensions Publication ID

6 August 2017

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6 August 2017

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